{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385501225",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1334736[alleleid]",
        "alleleId": 1334736,
        "preferredName": "NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1343091",
        "RCV": [
          "RCV001843693"
        ],
        "variationId": 1343091
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58157575C>T?assembly=hg19",
        "id": "chr12:g.58157575C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57763792C>T?assembly=hg38",
        "id": "chr12:g.57763792C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2140396224",
        "rs": 2140396224
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57763792,
          "referenceAllele": "C",
          "start": 57763791
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57763792C>T",
        "CM000674.2:g.57763792C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 58157575,
          "referenceAllele": "C",
          "start": 58157574
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58157575C>T",
        "CM000674.1:g.58157575C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56443842,
          "referenceAllele": "C",
          "start": 56443841
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56443842C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8402,
          "referenceAllele": "G",
          "start": 8401
        }
      ],
      "hgvs": [
        "NG_007076.1:g.8402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.1313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Cys438Tyr",
        "hgvsWellDefined": "ENSP00000518840.1:p.Cys438Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.*237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:n.*237G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Cys411Tyr",
        "hgvsWellDefined": "ENSP00000228606.4:p.Cys411Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Cys411Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Cys411Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Cys411Tyr",
        "hgvsWellDefined": "ENSP00000228606.4:p.Cys411Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.1371G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573063727",
      "coordinates": [
        {
          "allele": "A",
          "end": 1384,
          "referenceAllele": "G",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Cys411Tyr",
        "hgvsWellDefined": "NP_000776.1:p.Cys411Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573063727",
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.1232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Cys411Tyr",
        "hgvsWellDefined": "NP_000776.1:p.Cys411Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Cys411Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Cys411Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}